A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6456063



Internal ID21113616
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:51377101..51413710hg38UCSC Ensembl
chr12:51770885..51807494hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3836610
hg1936610
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18189938
Samples
Known GenesGALNT6, SLC4A8
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6456063
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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